A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature
Abstract Background Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, is the most common form of autosomal-dominant pure hereditary spastic paraplegias (HSP), and is rarely associated with a complicated form that includes ataxia, epilepsy, and cognitive decline. To date, the...
Enregistré dans:
| Auteurs principaux: | , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
BMC
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/2de1a4e4804d4d0097855afef05aabf7 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|